The Spanish national familial pancreatic cancer registry Pan-Gen-FAM: Screening of high-risk individuals for the early detection of a pancreatic tumor

Pancreatology ◽  
2016 ◽  
Vol 16 (3) ◽  
pp. S87
Author(s):  
Carmen Guillén-Ponce ◽  
Reyes Ferreiro ◽  
Vanessa Pachon ◽  
Julie Earl ◽  
Maria Teresa Salazar Lopez ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
High Risk ◽  
Early Detection ◽  
Cancer Registry ◽  
Pancreatic Tumor ◽  
Familial Pancreatic Cancer

The Spanish familial pancreatic cancer registry panfam: Screening of high-risk individuals

Pancreatology ◽  
2015 ◽  
Vol 15 (3) ◽  
pp. S126
Author(s):  
Carmen Guillèn-Ponce ◽  
Julie Earl ◽  
Maria Teresa Salazar Lopez ◽  
Celia Calcedo ◽  
Reyes Ferreiro ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
High Risk ◽  
Cancer Registry ◽  
Familial Pancreatic Cancer

scholarly journals Japanese Familial Pancreatic Cancer Registry with the aim to early detection of pancreatic cancer

Suizo ◽  
2017 ◽  
Vol 32 (1) ◽  
pp. 23-29 ◽  
Author(s):  
Chigusa MORIZANE ◽  
Masayuki KITANO ◽  
Susumu HIJIOKA ◽  
Tetsuhide ITO ◽  
Terumi KAMISAWA ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Early Detection ◽  
Cancer Registry ◽  
Familial Pancreatic Cancer

BRCA2 and predisposition to pancreatic and other cancers

2001 ◽  
Vol 3 (14) ◽  
pp. 1-10 ◽  
Author(s):  
Meghan A. Arnold ◽  
Michael Goggins
Keyword(s):  
Breast Cancer ◽  
Pancreatic Cancer ◽  
Early Detection ◽  
Pancreatic Adenocarcinoma ◽  
Germline Mutations ◽  
Familial Pancreatic Cancer ◽  
Pancreatic Carcinogenesis ◽  
Increased Risk ◽  
Late Event ◽  
Genetic Events

Pancreatic adenocarcinoma is a major cause of cancer deaths in the industrialised world. Recent work has focused on the genetics of pancreatic cancer with a goal of finding an early detection marker that might allow for greater rates of survival than are currently possible. The breast cancer 2 gene (BRCA2) is one of numerous genes implicated in familial pancreatic cancer. Carriers of germline mutations of the BRCA2 gene have an increased risk of several cancers, among them pancreatic adenocarcinoma. During pancreatic carcinogenesis, bi-allelic inactivation of BRCA2 occurs as a late event, suggesting that other genetic events must occur before neoplastic cells can tolerate loss of BRCA2.

scholarly journals PancPRO: Risk Assessment for Individuals With a Family History of Pancreatic Cancer

2007 ◽  
Vol 25 (11) ◽  
pp. 1417-1422 ◽  
Author(s):  
Wenyi Wang ◽  
Sining Chen ◽  
Kieran A. Brune ◽  
Ralph H. Hruban ◽  
Giovanni Parmigiani ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Pancreatic Cancer ◽  
Family History ◽  
High Risk ◽  
Cancer Risk ◽  
Risk Prediction ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Familial Pancreatic Cancer ◽  
Cancer Susceptibility Gene

Purpose The rapid fatality of pancreatic cancer is, in large part, the result of an advanced stage of diagnosis for the majority of patients. Identification of individuals at high risk of developing pancreatic cancer is a first step towards the early detection of this disease. Individuals who may harbor a major pancreatic cancer susceptibility gene are one such high-risk group. The goal of this study was to develop and validate PancPRO, a Mendelian model for pancreatic cancer risk prediction in individuals with familial pancreatic cancer, to identify high-risk individuals. Methods PancPRO was built by extending the Bayesian modeling framework developed for BRCAPRO, trained using published data, and validated using independent prospective data on 961 families enrolled onto the National Familial Pancreas Tumor Registry, including 26 individuals who developed incident pancreatic cancer during follow-up. Results We developed a risk prediction model, PancPRO, and free software for the estimation of pancreatic cancer susceptibility gene carrier probabilities and absolute pancreatic cancer risk. Model validation demonstrated an observed to predicted pancreatic cancer ratio of 0.83 (95% CI, 0.52 to 1.20) and high discriminatory ability, with an area under the receiver operating characteristic curve of 0.75 (95% CI, 0.68 to 0.81) for PancPRO. Conclusion PancPRO is the first risk prediction model for pancreatic cancer. When we validated our model using the largest registry of familial pancreatic cancer, our model provided accurate risk assessment. Our findings highlight the importance of detailed family history for clinical cancer risk assessment and demonstrate that accurate genetic risk assessment is possible even when the causative genes are not known.

Spanish national hereditary pancreatic cancer registry (PanFAM).

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e12033-e12033
Author(s):  
Carmen Guillen-Ponce ◽  
Evelina Mocci ◽  
Julie Earl ◽  
Carmen T Guerrero ◽  
Maria Celia Calcedo ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
High Risk ◽  
Screening Program ◽  
Epidemiological Data ◽  
Screening Methods ◽  
Familial Pancreatic Cancer ◽  
Inherited Predisposition ◽  
Screening Study ◽  
Age Of Diagnosis ◽  
Breast And Prostate Cancer

e12033 Background: Inherited predisposition to Pancreatic Cancer (PC) corresponds 10% of all cases and includes members of families affected with hereditary cancer syndromes as Familial Pancreatic Cancer (FPC), Peutz-Jeghers, familial melanoma, hereditary breast and ovarian cancer, hereditary pancreatitis. An inherited predisposition in early onset PC (≤ 50 years) has also been suggested. We report preliminary data on PanFAM patients and screening of high risk individuals. Methods: PamFAM is a part of the European PANGEN PC case/control study of hereditary PC, co-ordinated by the Ramón y Cajal (RC) hospital and the Spanish National Cancer Research Center, with 16 participating hospitals. All families with clinical evidence of an inherited PC syndrome were recruited and multi-generational pedigrees were constructed. Cancer diagnoses were confirmed, when possible, by review of medical records. Blood samples and epidemiological data were collected for all participating family members. A screening program for early detection of PC, based on endoscopic ultrasound (EUS), CT and circulating tumour cells (CTCs) was offered to high risk individuals. Results: Of 505 Spanish PCs collected by PANGEN, 31 (~6%) were FPC cases; 18 (58%) revealed only PC and the remaining showed clustering with other tumor types, gastric cancer was the most common (13%). Among FPC families, 3 had 3 cases of PC and the remaining had 2 cases. The mean age of diagnosis was 67 years (range 47-85), 20 male and 11 female. Four FPCs were previously diagnosed with cancer (Hodgkin lymphoma, breast and prostate cancer) and 3 with acute pancreatitis. 37 PCs with no family history of cancer were diagnosed at the age of 50 years or earlier (mean 45, range 30-50), 18 male and 19 female. Other 27 eligible families were recruited by RyC hospital, 8 (30%) with FPC and 3 (11%) with PC ≤ 50 years. A cohort of 61 high risk individuals participes in the screening study: 3 had abnormal EUS, 1 a benign pancreatic node and 1 a renal angiolipoma; one young man had 2 CTCs. Conclusions: PanFAM is the first registry in Spain collecting hereditary PC cases and it represents an important resource to identify underlying gene defects and to the development of screening methods precursor lesions detection in high risk individuals.

Interim results of a screening protocol for early detection of pancreatic cancer in asymptomatic high-risk patients.

2016 ◽  
Vol 34 (4_suppl) ◽  
pp. 223-223
Author(s):  
Alexandra Gangi ◽  
Mokenge Peter Malafa ◽  
Jason Klapman
Keyword(s):  
Pancreatic Cancer ◽  
Clinical Trial ◽  
High Risk ◽  
Early Detection ◽  
Surgical Resection ◽  
Early Stage ◽  
Needle Aspiration ◽  
Screening Protocol ◽  
Risk Patients ◽  
Asymptomatic Individuals

223 Background: Pancreatic cancer (PC) is the 4th leading cause of cancer deaths in the US but is rarely diagnosed at an early curable stage. Early detection of PC will have measurable improved outcomes in affected patients. This study sets out to evaluate if EUS can detect early stage pre-cancerous or cancerous changes in the pancreas of high risk (HR) patients. Methods: After IRB review, a clinical trial (NCT01662609) to evaluate HR patients was opened to accrual. Study subjects met specified inclusion and exclusion criteria as defined by the protocol. Enrolled subjects underwent EUS followed by screening as defined by study protocol: subjects with normal EUS underwent repeat EUS at 1 year; subjects with abnormal EUS underwent fine needle aspiration (FNA) if a mass or cyst was found and measured ≥ 5mm and did not undergo FNA if the lesion measured < 5mm. Those with indeterminate or benign FNA underwent pancreatic CT scan with repeat EUS/FNA at 3 or 6 months respectively. Those with positive FNA were treated appropriately based on findings. Patients with mass/cyst < 5mm underwent repeat EUS/FNA at 3 months. Targeted follow-up is 5 years. Results: Of the 52 subjects accrued thus far, 41 were available for interim analysis. Twenty-seven (67%) subjects had a normal EUS while 14 (34%) subjects had abnormal findings. Two patients had large cysts with FNA consistent with an intraductal papillary mucinous neoplasms (IPMN). These 2 subjects ultimately underwent surgical resection. The 12 remaining subjects had at least 1 subcentimeter lesion and are being routinely screened per the outlined protocol. Conclusions: EUS screening of asymptomatic individuals who are at high risk for pancreatic cancer as defined by our inclusion criteria frequently detects abnormal lesions in the pancreas. These lesions include high risk IPMNs that warrant surgical resection. Our results validate the results of other high risk screening protocols and support the screening of individuals who are at high risk for development of pancreatic cancer. Clinical trial information: NCT01662609.

scholarly journals LCN2 and TIMP1 as Potential Serum Markers for the Early Detection of Familial Pancreatic Cancer

2013 ◽  
Vol 6 (2) ◽  
pp. 99-103 ◽  
Author(s):  
Emily P. Slater ◽  
Volker Fendrich ◽  
Konstantin Strauch ◽  
Susanne Rospleszcz ◽  
Annette Ramaswamy ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Early Detection ◽  
Serum Markers ◽  
Familial Pancreatic Cancer
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